Today, Navigenics is pleased to announce our participation in a major study that will examine how people respond to personal genetic testing. Here are some details of this research endeavor, as described in a news release:
A consortium of health care, technology and research leaders have joined forces in a first-of-its-kind research study to assess the behavioral impact of personal genetic testing on people who choose to receive such screenings to identify their potential risk for developing certain diseases.
Sponsored by Scripps Translational Science Institute (STSI), the study aims to find out if participating in personal genomic testing will improve health by motivating people to make positive lifestyle changes, such as exercising, eating healthy and quitting smoking, as well as decisions to seek further medical evaluation and preventive strategies. The study will offer genetic scans to up to 10,000 employees, family members and friends of the nonprofit Scripps Health system in San Diego and will assess changes in participants’ behaviors over a 20-year period.
Co-sponsors of the study include Navigenics Inc. of Redwood Shores, Calif.; Affymetrix of Santa Clara, Calif.; and Microsoft Corp. of Redmond, Wash. Study participants age 18 and older can receive a scan of their genome and a detailed analysis of their genetic risk for more than 20 health conditions that may be changed by lifestyle, including diabetes, obesity, heart attack and some forms of cancer.
“Genome scans give people considerable information about their DNA and risk of disease, yet questions have been raised if these tests are ready for widespread public use,” said Eric J. Topol, M.D., director of STSI and principal investigator of the study. “Our study will prospectively evaluate the effect that state-of-the-art gene scans have on people’s lifestyles, behaviors, diets and psyches.”
Affymetrix will scan each participant’s genome and Navigenics will interpret the scan results and offer personalized guidance on steps to lessen the chances of negative health impact. This information will be available to participants on Navigenics’ secure Web site. Each participant will be able to enter and store clinical and lifestyle information in an individual Microsoft HealthVault account, allowing the participant to manage his or her personal health information in one location and share it, as desired, with health care providers or others they trust to help make more informed health care decisions.
Lifestyle changes will be tracked via participants’ self-reported health assessment questionnaires, including a baseline assessment and subsequent self-reported assessments at three- and 12-month intervals after receiving gene scan results. Researchers will also ask participants to conduct periodic health surveys over the next 20 years to assess their behaviors longitudinaly. A complete database of genomic and clinical information will be assembled at the Scripps Genomic Medicine program.
“We stand upon the threshold of a fundamental paradigm shift from reactive to predictive and preventive medicine,” said Vance Vanier, M.D., chief medical officer of Navigenics. “Modern genomic tools are instrumental in this shift, and studies that help inform physicians about the most responsible, ethical and effective ways to help people use this information to have impact on their health are crucial. Our partnership with Scripps Health represents our shared commitment to advancing the field of preventive genomic medicine.”
A number of safeguards will be in place to protect the privacy of participants’ genetic information. Traditional identifying information for participants’ saliva samples and self-reported health assessment questionnaires will be de-identified, encoded, encrypted and kept in a secure database.
“This project represents the largest single opportunity to date for modern genetics to move outside the laboratory and directly to consumers,” said Kevin King, president of Affymetrix. “Navigenics harnesses the power of the Affymetrix SNP Array 6.0, which looks at more genetic markers than any other available product. Participants in this study will be able to understand more about their health and susceptibility to disease than ever before.”
Researchers will use the genetic variations found in the study as a tool to continue to study genes linked to many diseases. The study affords researchers the opportunity to better understand ways to prevent, diagnose and treat disease.
“Personalized medicine stands to change the way people approach their health and wellness, as well as open up new genetic research opportunities,” said Peter Neupert, corporate vice president, Health Solutions Group, Microsoft, Inc. “This collaboration is a significant step forward in empowering people to proactively address their specific individual health needs, as well as give clinical researchers access to a broader pool of genetic data to develop new disease treatments.”
Thomas M. Vogt, MD, MPH Oct 20, 2008
This study could be of great importance. However, I am concerned about the design. Although the details are not provided here, the public’s knowledge of, and reaction too, genetic testing will be evolving rapidly over the next few years. Without a randomized design it will not be possible to distinguish between secular trends in public attitudes and the individual reactions of employees to being tested. Is there an adequate control group for this study? If there is, it could be of great importance. If not, the results will have little meaning. While it is true that personalized medicine offers much in the way of care innovations, there is also a significant potential for increasing unnecessary medical care costs and creating anxiety and diminishing the quality of life. How to handle this new technology to improve the quality of life is a critical area for research. But how that research is designed is also critically important. Is it possibel to get more detail on that design?